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2 patient data entries collated from reference Synofzik et al, 2010. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 581 | W748S5
| W748S5
| Dystonia of both arms, with predominant dystonic ulnar deviation of the right upper limb with jerky wrist and finger movements. Also her feet show unpatterend jerky movements, which may be classified as myoclonus but are also similar to limb movements in benign hereditary chorea. external ophthalmoplegia, slowing of voluntary saccades and gait ataxia started. | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | n/a | 33 | n/a | | 582 | W748S5
| W748S5
| dystonic ulnar deviation of the left upper limb with distal predominance. She showed intermittent facial and jaw opening dystonia. At rest, she had marked postural instability caused by trunk ataxia, which is aggravated by motor actions like e.g. lifting the upper limbs. severe dysarthria, incomplete horizontal and vertical external ophthalmoplegia and ataxia were observed as clinical features of MIRAS. Patient 2 was only able to stand assisted for a few seconds. | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | n/a | 40 | n/a |
1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details.
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